Submissions for variant NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402_Ser403insGly)

dbSNP: rs587779747

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192790	SCV000246545	likely benign	not specified	2014-12-23	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514231	SCV000610259	likely benign	not provided	2017-03-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314784	SCV000848197	benign	Inborn genetic diseases	2017-04-14	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198376	SCV001369288	likely benign	Coffin-Siris syndrome 1	2019-08-22	criteria provided, single submitter	clinical testing	This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BS2,BP3,BP6.
GeneDx	RCV000514231	SCV001936010	benign	not provided	2020-05-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514231	SCV002491022	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing